D56A (p.Asp56Ala) variant of ABCG5 (Q9H222)
D56A (p.Asp56Ala) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes variant effect predictions and structural context.
D56A (p.Asp56Ala) variant details
- p.Asp56Ala
- ExAC rs765464603
- Uncertain significance
- Cardiovascular phenotype
- Missense
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available